Terkko Navigator / Genetics in Medicine

Highlights of This Issue.

Personalizing medicine with clinical pharmacogenetics.

Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X.

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions.

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.

A large health system's approach to utilization of the genetic counselor CPT(R) 96040 code.

Feasibility of a pancreatic cancer surveillance program from a psychological point of view.

Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T).

von Hippel-Lindau disease: Surveillance strategy for endolymphatic sac tumors.

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.

Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling.

College News.

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening.

Issues in genetic testing for ultra-rare diseases: background and introduction.